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  2. Defects of intrinsic and innate immunity
  3. IFNGR2
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Defects of intrinsic and innate immunity

Gene: IFNGR2

Green List (high evidence)
IFNGR2 (interferon gamma receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000159128
EnsemblGeneIds (GRCh37): ENSG00000159128
OMIM: 147569, Gene2Phenotype
IFNGR2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 15 Mar 2022, 8:04 a.m. | Last Modified: 15 Mar 2022, 8:04 a.m.
Panel Version: 0.88

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 28, mycobacteriosis, MIM# 614889

Publications

Created: 15 Mar 2022, 8:04 a.m.
Last Modified: 15 Mar 2022, 8:04 a.m.
Panel version: 0.88

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 28, mycobacteriosis, MIM# 614889
OMIM
147569
Clinvar variants
Variants in IFNGR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ifngr2 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFNGR2 were changed from to Immunodeficiency 28, mycobacteriosis, MIM# 614889

15 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFNGR2 were set to

15 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IFNGR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFNGR2 was added gene: IFNGR2 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IFNGR2 was set to Unknown